Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

Pediatric Nephrology

Volumn 24, Issue 1, 2009, Pages 55-60

  Wolf, Matthias T F ^a,b,c   Hoskins, Bethan E ^a   Beck, Bodo B ^c   Hoppe, Bernd ^c   Tasic, Velibor ^d   Otto, Edgar A ^a   Hildebrandt, Friedhelm ^a,e  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS AT DALLAS   (United States)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

CAKUT; Mutation analysis; Tamm Horsfall protein; Urinary tract malformation; Uromodulin

Indexed keywords

ARGININE; ENDONUCLEASE; ENDONUCLEASE CEL I; GENOMIC DNA; GLUTAMINE; TAMM HORSFALL GLYCOPROTEIN; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONGENITAL ANOMALIES OF THE KIDNEY AND THE URINARY TRACT; EXON; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC CONSERVATION; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; URINARY TRACT MALFORMATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUCOPROTEINS; MUTATION; URINARY TRACT; UROLOGIC DISEASES; YOUNG ADULT;

EID: 59849127448     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-1016-6     Document Type: Article

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